A14G (p.Ala14Gly) variant of ACAD9 (Q9H845)
A14G (p.Ala14Gly) in ACAD9 (Q9H845) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- rs746312225
- gnomAD 3-128879696-G-GCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 14.10
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available